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1.
《European journal of medical genetics》2021,64(12):104345
BackgroundEpidermolysis bullosa (EB) is a genodermatosis characterized by skin fragility and blisters with variable severity. Patients with Dystrophic EB (DEB) or Junctional EB (JEB) mainly present to clinic due to greater functional impairment. Pathogenic sequence variations in COL7A1 are implicated in DEB.ObjectiveWe have tried to decipher the molecular spectrum and genotype phenotype correlation of 21 Indian patients with EB.MethodsNext generation sequencing (NGS) was performed to determine the pathogenic variants. Sanger sequencing was also done for validation of the variants in eleven individuals.ResultsPathogenic variants were detected in 20 individuals (diagnostic yield of 95%). Majority of them (90%) had sequence variation in COL7A1 while two had pathogenic variants in ITGB4 and KRT14 respectively. Out of the 18 patients confirmed to have DEB, 3 had Dominant DEB (DDEB) whereas 15 patients had Recessive DEB (RDEB). Amongst 23 sequence variations identified, 12 were found to be novel (3 were missense, 5 were premature termination codon variants while 4 were splice-site changes).ConclusionGenotype phenotype correlation was noted with milder manifestations in those with dominant inheritance types. Exact molecular diagnosis can be ascertained by NGS in majority of cases. 相似文献
2.
Sarah E. Sheppard Laura Elizabeth Anderson Cathryn Sibbald Colleen Cotton Elizabeth Bhoj Marissa J. Perman Leslie Castelo‐Soccio 《Pediatric dermatology》2019,36(6):1007-1009
Epidermolysis bullosa simplex (EBS) is a skin fragility disorder resulting from mutations of structural proteins in the epidermis. We provide a brief report of long‐term survival and reproduction in a mother with EBS due to keratin 5 (KRT5) c.1429G > A (p.E477K) mutation, which causes a particularly severe form of the disease. 相似文献
3.
《Vaccine》2016,34(26):2948-2952
Herpes simplex virus type-1 (HSV-1) and -2 (HSV-2) are highly prevalent global pathogens which commonly cause recurrent oral and genital ulcerations. Less common but more serious complications include meningitis, encephalitis, neonatal infection, and keratitis. HSV-2 infection is a significant driver of the HIV epidemic, increasing the risk of HIV acquisition 3 fold. As current control strategies for genital HSV-2 infection, including antiviral therapy and condom use, are only partially effective, vaccines will be required to reduce infection. Both preventive and therapeutic vaccines for HSV-2 are being pursued and are in various stages of development. We will provide an overview of efforts to develop HSV-2 vaccines, including a discussion of the clinical need for an HSV vaccine, and status of research and development with an emphasis on recent insights from trials of vaccine candidates in clinical testing. In addition, we will touch upon aspects of HSV vaccine development relevant to low and middle income countries. 相似文献
4.
Fuying Chen Linting Huang Changcan Li Jia Zhang Weiqin Yang Beibei Zhang Huaguo Li Dan Deng Jianying Liang Jinwen Shen Zhirong Yao Ming Li 《Clinical genetics》2020,98(2):179-184
Epidermolysis bullosa (EB) is a heritable blistering disorder. We performed a next-generation sequencing-based multigene panel test and successfully predicted 100% of the EB types, including, 36 EB simplex (EBS), 13 junctional EB (JEB), 86 dystrophic EB (DEB), and 3 Kindler EB. Chinese JEB and recessive DEB (RDEB) patients have relatively mild phenotypes; for severe type separately accounts for 45.5% and 23.8%, respectively. We identified 96 novel and 49 recurrent pathogenic variants in 11 genes, although we failed to detect the second mutation in one JEB and five RDEB patients. We identified one novel p.E475K mosaic mutation in the clinically normal mother of one out of 13 EBS patients with KRT5 mutations, one recurrent p.G2034R mosaic mutation, and one novel p.G2043R mosaic mutation in the clinically normal relatives of two out of 19 dominant DEB patients. This study shows that next-generation technology could be an effective tool in diagnosing EB. 相似文献
5.
Dermoscopic features of hidroacanthoma simplex: Usefulness in distinguishing it from Bowen's disease and seborrheic keratosis
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Chihiro Shiiya Hiroo Hata Yuka Inamura Keisuke Imafuku Shinya Kitamura Hiromi Fujita Hiroshi Shimizu 《The Journal of dermatology》2015,42(10):1002-1005
Hidroacanthoma simplex (HAS) is a rare benign eccrine adnexal tumor. HAS is sometimes clinically or pathologically misdiagnosed as squamous cell carcinoma in situ (Bowen's disease; BD), seborrheic keratosis (SK) or other adnexal tumor. To date, there has never been a report focusing on dermoscopic features to distinguish HAS from BD and SK. We found the following dermoscopic findings to be characteristic of HAS: fine black dots/globules (75% of cases) and fine scales arranged annularly (100% of cases). In contrast, glomerular vessels, which are typically observed in BD, were not seen in any of the four cases. Cerebriform appearance and milia‐like cysts, which are typically observed in SK, were also not seen in any of the four cases. The existence of “scattered fine black dots/globules” and “fine scales arranged annularly”, and the absence of the glomerular vessels, may contribute to precise diagnosis of HAS. Even though HAS resembles BD or SK clinically, it can be distinguished from these by the characteristic dermoscopic features. 相似文献
6.
目的:检测诱导型和内皮型一氧化氮合酶(iNOS 和eNOS)在外阴慢性单纯性苔藓和外阴硬化性苔藓中的表达。方法:采用免疫组织化学SABC法检测iNOS和eNOS在30例外阴慢性单纯性苔藓蜡块(LSC)、30例外阴硬化性苔藓蜡块(LS)和10例外阴正常皮肤中的表达,并以人原始造血细胞抗原(CD34)标记微血管内皮细胞,测量各组织的微血管密度(MVD)。结果:iNOS和eNOS在外阴正常皮肤中无表达;在LSC中iNOS和eNOS每视野平均阳性细胞数分别为14.83±3.79和17.86±4.82,高于LS的8.00±3.35和6.43±3.87,差异均有统计学意义(P<0.05);在LSC和正常皮肤中MVD分别为21.58±2.48和20.44±3.66,高于LS(10.34±2.83)。iNOS和eNOS的表达具有明显的正相关性(Kappa=0.811,P<0.05)。结论:iNOS和eNOS可能与LSC炎症过程中的血管扩张有关;在LS皮损真皮中微血管减少,iNOS和eNOS可代偿性地改善LS的血液循环。 相似文献
7.
腺病毒介导的HSV—tk基因治疗大鼠脑胶质瘤实验研究 总被引:4,自引:0,他引:4
目的:带有HSV-tk基因的重组腺病毒(AdHCMV-tk)结合核苷类似物(NA)治疗大鼠C6脑胶质瘤。方法:用X-gal染色测定AdHCMV-lacZ转染大鼠C6胶质瘤细胞的效率。用AdHCMV-tk/ACV、GCV离体及活体治疗大鼠C6胶质瘤。结果:AdHCMV-lacZ感染C6细胞效率达100%,AdHCMV-tk感染C6细胞,在病毒感染复数为1000时,GCV和ACV半致死剂量分别为3μg/ml和20μg/ml,Ad-HCMV-tk/ACV治疗大鼠C6胶质瘤模型,大鼠生存期超过90天,而对照组分别为17.0±1.6天(生理盐水组)、14.5±1.3天(AdHCMV-lacZ组),P<0.001。结论:重组腺病毒对靶细胞感染效率可达100%,AdHCMV-tk用GCV的杀伤C6胶质瘤细胞比ACV强,而HSV-tk/ACV用腺病毒介导治疗大鼠脑肿瘤疗效显著。 相似文献
8.
Permissive herpes simplex virus (HSV) infection in tissue culture results in host cell destruction. Latent HSV infection in vivo occurs in neurons of peripheral sensory ganglia (PSG) and it therefore can not take place in neurons in which the virus has completed a lytic replication cycle similar to that present in vitro. Our hypothesis, based on experimental data and observations in humans, suggests that establishment of latent infection and reactivation of HSV-1 does not involve neuronal cell loss. Latency is established in neurons in which the virus does not replicate and is determined, in part, by the tissue levels of a herpes transactivating protein (Vmw65) that is a component of the viral tegument. We also suggest that reactivation of latent infection does not involve destruction of neurons and is due to replication of virus at the peripheral mucocutaneous tissues to where virus or viral DNA have been transported from the nervous tissue. Alternatively, reactivation is initiated in the PSG using a replication cycle which does not involve irreversible damage to neurons. This model explains the lack of damage to neurons which continue to serve as permanent reservoirs of latent virus for the entire life of the host. 相似文献
9.
单纯疱疹病毒感染与冠心病急性心肌梗死血液流变特性的相关性研究 总被引:2,自引:1,他引:1
目的 探讨单纯疱疹病毒 (HSV)感染与冠心病心肌梗死的关系。方法 测定 5 1例急性心肌梗死 (AMI)和 4 2例陈旧性心肌梗死 (OMI)患者及 31例冠脉造影正常者 (NC)的HSV - 1特异性抗体 (HSV - 1IgG、HSV - 1IgM)浓度 ,并同步观察纤维蛋白原 (Fg)、血液流变特性指标变化及其与HSV - 1感染的相关性。结果 AMI组HSV - 1IgG阳性率及平均浓度明显高于NC组 (P <0 0 5 ) ,HSV - 1DNA检测结果与之吻合。校正冠心病危险因素前后HSV - 1IgG阳性与AMI均有相关关系 (OR4 2 6 6 ,P =0 0 19;OR 3 82 1,P =0 0 32 )。AMI组IgG、Fg、血浆黏度、低 /高切全血黏度、红细胞压积、红细胞聚集指数高于 ,而红细胞变形指数低于NC组及OMI组 (P均 <0 0 5 )。AMI组中HSV - 1( )组上述指标 (除HCT外 )的改变与同组中HSV - 1( - )组及与NC、OMI组中HSV - 1( )组比较有显著性差异 (P均 <0 0 5 ) ,AMI组中HSV - 1( )组IgG与Fg、血浆黏度、低 /高切全血黏度、红细胞聚集指数呈正相关 ,而与红细胞变形指数呈负相关 ,调整冠心病的危险因素前后IgG与Fg均呈正相关。结论 HSV - 1感染与CHD(AMI)之间存在明显的相关性 ,与Fg、血液流变特性指标也存在相关性。 相似文献
10.
目的 探讨获得性大疱性表皮松解症(EBA)基底膜带自身抗体(BMZ—Ab)的靶抗原及其定位情况。方法 用免疫印迹(IB)、盐裂皮肤间接免疫荧光(IIF)、间接免疫电镜(IIEM)等方法检测6例EBA血清中。IgG型及IgA型BMZ—Ab识别的真表皮抗原以及抗原定位情况。结果 6例EBA血清中IgG型BMZ—Ab均结合真皮提取物中290ku蛋白,3例同时伴有结合290ku蛋白的IgA型BMZ—Ab。盐裂皮肤IIF显示BMZ真皮侧IgG线状沉积,IIEM示金颗粒沉积于BMZ致密下层,即真皮锚原纤维的Ⅶ型胶原处。结论 位于BMZ致密下层的Ⅶ型胶原是EBA中BMZ-Ab的特异性靶抗原,Ⅶ型胶原上的抗原表位可被EBA血清中IgG及IgA型BMZ—Ab识别。 相似文献